A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations

被引：0

作者：

A. M. Jouanolle

Patricia Fergelot

Gwénola Gandon

Jacqueline Yaouanq

Jean Yves Le Gall

Véronique David

机构：

[1] Service de Génétique Moléculaire et Hormonologie,

[2] CHU Pontchaillou,undefined

[3] 2 Rue Henri Le Guilloux,undefined

[4] F-35033 Rennes cedex,undefined

[5] France Fax: +33 2 99 33 68 98,undefined

[6] UPR 41 CNRS,undefined

[7] Faculté de Médecine,undefined

[8] Avenue du Professeur Léon Bernard,undefined

[9] F-35043 Rennes cedex,undefined

[10] France,undefined

[11] Service d’Epidémiologie et Hygiène Hospitalière,undefined

[12] CHU Pontchaillou,undefined

[13] 2 Rue Henri Le Guilloux,undefined

[14] F-35033 Rennes cedex,undefined

[15] France,undefined

来源：

Human Genetics | 1997年 / 100卷

关键词：

Candidate Gene; Missense Mutation; Positional Cloning; Hemochromatosis; Direct Implication;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

The gene whose alteration causes hereditary hemochromatosis (HFE according to the international nomenclature) was, more than 20 years ago, shown to map to 6p21.3. It has since escaped all efforts to identify it by positional cloning strategies. Quite recently, a gene named HLA-H was reported as being responsible for the disease. Two missense mutations, Cys282Tyr (C282Y) and His63Asp (H63D), were observed, but no proof was produced that the gene described is the hemochromatosis gene. To validate this gene as the actual site of the alteration causing hemochromatosis, we decided to look for the two mutations in 132 unrelated patients from Brittany. Our results indicate that more than 92% of these patients are homozygous for the C282Y mutation, and that all 264 chromosomes but 5 carry either mutation. These findings confirm the direct implication of HLA-H in hemochromatosis.

引用

页码：544 / 547

页数：3